Research
Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations
- First Published June 21, 2019
Research
Pathogenicity and selective constraint on variation near splice sites
- First Published December 26, 2018
Method
Detection of structural mosaicism from targeted and whole-genome sequencing data
- First Published August 30, 2017
Research
Callithrix jacchus genome" > Discovery of a new repeat family in the Callithrix jacchus genome
- First Published February 25, 2016
Method
A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders
- First Published December 19, 2013
Perspective
Reading TE leaves: New approaches to the identification of transposable element insertions
- First Published June 1, 2011
Research
Genome-wide mapping and assembly of structural variant breakpoints in the mouse genome
- First Published March 22, 2010
Letter
5′-Transducing SVA retrotransposon groups spread efficiently throughout the human genome
- First Published August 3, 2009
Letter
Mobile elements create structural variation: Analysis of a complete human genome
- First Published May 13, 2009